Loss-of-function variants in ciliary genes confer high risk for Tetralogy of Fallot [RNA-Seq]
RNA-seq (gene expression) · mouse · 38 samples
- What it is
- RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
- Organism
- Mus musculus (mouse)
- Samples
- 38 samples: 12 conditions, mostly in triplicateGroups are read from the sample names, not from the paper. Check the list below.
- Data you can get
- A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
- Paper
- Loss-of-function variants in ciliary genes confer high risk for tetralogy of FallotScience advances · 2025
Read the full summary ↓
Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.
Processed table
The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.
Supplementary files
The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE294716_RAW.tar (it can run to tens of gigabytes).
Raw sequencing reads
The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.
What the files usually look like: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.
Also filed as BioProject PRJNA1251363 and SRA study SRP578996. Searching any of these in the dataset finder brings you back here.
Supports a between-group comparison across 38 samples.
How we read this: 12 replicated groups read from 38 sample titles; they account for 38 of them. These groups are guessed from the sample names, not taken from the paper, so check them against the sample list below before relying on them.
- GSM8917693 E10-5_Agbl2_1 E10-5_Agbl2
- GSM8917694 E10-5_Agbl2_2 E10-5_Agbl2
- GSM8917695 E10-5_Agbl2_3 E10-5_Agbl2
- GSM8917696 E10-5_Agbl2_4 E10-5_Agbl2
- GSM8917697 E10-5_Agbl2_WT_1 E10-5_Agbl2_WT
- GSM8917698 E10-5_Agbl2_WT_2 E10-5_Agbl2_WT
- GSM8917699 E10-5_Agbl2_WT_3 E10-5_Agbl2_WT
- GSM8917700 E10-5_Agbl2_WT_4 E10-5_Agbl2_WT
- GSM8917701 E10-5-PKHD1L1-1 E10-5-PKHD1L1
- GSM8917702 E10-5-PKHD1L1-2 E10-5-PKHD1L1
- GSM8917703 E10-5-PKHD1L1-3 E10-5-PKHD1L1
- GSM8917704 E10-5_PKHD1L1-WT-3-1 E10-5_PKHD1L1-WT-3
- GSM8917705 E10-5_PKHD1L1-WT-3-2 E10-5_PKHD1L1-WT-3
- GSM8917706 E10-5_PKHD1L1-WT-3-3 E10-5_PKHD1L1-WT-3
- GSM8917707 E10-5-Ppef2-1 E10-5-Ppef2
- GSM8917708 E10-5-Ppef2-2 E10-5-Ppef2
- GSM8917709 E10-5-Ppef2-3 E10-5-Ppef2
- GSM8917710 E10-5_Ppef2-WT-7-1 E10-5_Ppef2-WT-7
- GSM8917711 E10-5_Ppef2-WT-7-2 E10-5_Ppef2-WT-7
- GSM8917712 E10-5_Ppef2-WT-7-3 E10-5_Ppef2-WT-7
- GSM8917713 E10-5-Sptbn5-1 E10-5-Sptbn5
- GSM8917714 E10-5-Sptbn5-2 E10-5-Sptbn5
- GSM8917715 E10-5-Sptbn5-3 E10-5-Sptbn5
- GSM8917716 E10-5_Sptbn5-WT-5-1 E10-5_Sptbn5-WT-5
- GSM8917717 E10-5_Sptbn5-WT-5-2 E10-5_Sptbn5-WT-5
- GSM8917718 E10-5_Sptbn5-WT-5-3 E10-5_Sptbn5-WT-5
- GSM8917719 E10-5-Tekt3-1 E10-5-Tekt3
- GSM8917720 E10-5-Tekt3-2 E10-5-Tekt3
- GSM8917721 E10-5-Tekt3-3 E10-5-Tekt3
- GSM8917722 E10-5_Tekt3-WT-6-1 E10-5_Tekt3-WT-6
- GSM8917723 E10-5_Tekt3-WT-6-2 E10-5_Tekt3-WT-6
- GSM8917724 E10-5_Tekt3-WT-6-3 E10-5_Tekt3-WT-6
- GSM8917725 E10-5-MLF1-1 E10-5-MLF1
- GSM8917726 E10-5-MLF1-2 E10-5-MLF1
- GSM8917727 E10-5-MLF1-3 E10-5-MLF1
- GSM8917728 E10-5-MLF1_WT-2-1 E10-5-MLF1_WT-2
- GSM8917729 E10-5-MLF1_WT-2-2 E10-5-MLF1_WT-2
- GSM8917730 E10-5-MLF1_WT-2-3 E10-5-MLF1_WT-2
- GSE295521 Loss-of-function variants in ciliary genes confer high risk for Tetralogy of Fallot 7 samples shares loss-of-function, tetralogy, variants, ciliary, confer, fallot, risk
- GSE302602 Dominant negative effects of Weaver syndrome-associated EZH2 variants [RNA-seq] 54 samples shares variants, rna-seq
- GSE227234 Transcriptomic analysis of transgenic mouse kidney glomeruli with HIV-associated nephropathy (Tg26) and human APOL1 variants expression [bulk RNA-seq] 34 samples shares variants, rna-seq
- GSE254255 BBSome-dependent ciliary Hedgehog signaling governs cell fate in the white adipose tissue (RNA-Seq) 18 samples shares ciliary, rna-seq
- GSE254258 BBSome-dependent ciliary Hedgehog signaling governs cell fate in the white adipose tissue (scRNA-Seq) 10 samples shares ciliary, rna-seq
- GSE252688 Ash1l loss-of-function results in structural birth defects and altered cortical development [scRNA-seq] 7 samples shares loss-of-function, rna-seq
- GSE227235 Transcriptomic analysis of transgenic mouse kidney glomeruli with human APOL1 variants expression [scRNA-seq] 5 samples shares variants, rna-seq
- GSE299698 Enhancer Poising Enables Pathogenic Gene Activation by Noncoding Variants [RNA-seq] 4 samples shares variants, rna-seq
Metadata from NCBI GEO, cached and refreshed periodically — the NCBI page above is authoritative. Downloads link straight to NCBI/ENA; nothing is proxied through BioTransfer.